Variant report

Variant	nsv1010844
Chromosome Location	chr4:55573693-55587972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55585916..55588173-chr4:55590799..55592700,2	K562	blood:
2	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:
3	chr4:55585742..55588385-chr4:55588743..55591028,2	MCF-7	breast:
4	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:

Extended variants
information (count: 539 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17240054	chr4:55573693-55573694	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373040934	chr4:55573750-55573751	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556345990	chr4:55573760-55573761	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183297184	chr4:55573779-55573780	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529463815	chr4:55573784-55573785	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547620367	chr4:55573815-55573816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80179677	chr4:55573819-55573820	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141643079	chr4:55573841-55573842	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79317067	chr4:55573851-55573852	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563254440	chr4:55573864-55573865	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540089753	chr4:55573887-55573888	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560273694	chr4:55573905-55573906	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2237020	chr4:55573935-55573936	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112936649	chr4:55573946-55573947	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552266042	chr4:55573952-55573953	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73818389	chr4:55574011-55574012	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187769533	chr4:55574019-55574020	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34894130	chr4:55574066-55574067	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199812779	chr4:55574067-55574068	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551882202	chr4:55574068-55574069	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3020826	chr4:55574182-55574183	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115427509	chr4:55574228-55574229	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146212620	chr4:55574245-55574246	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114445741	chr4:55574298-55574299	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138983748	chr4:55574348-55574349	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112467855	chr4:55574349-55574350	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556623708	chr4:55574378-55574379	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567334614	chr4:55574458-55574459	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576610287	chr4:55574465-55574466	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190994713	chr4:55574480-55574481	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75875427	chr4:55574503-55574504	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574814270	chr4:55574517-55574518	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150912203	chr4:55574518-55574519	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534689617	chr4:55574621-55574622	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2969162	chr4:55574664-55574665	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576970976	chr4:55574702-55574703	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545675977	chr4:55574703-55574704	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562283161	chr4:55574751-55574752	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs71599650	chr4:55574775-55574776	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs561391240	chr4:55574804-55574805	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs77657314	chr4:55574805-55574806	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530187316	chr4:55574806-55574807	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139421916	chr4:55574807-55574808	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561365830	chr4:55574855-55574856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182388285	chr4:55574883-55574884	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370132965	chr4:55574910-55574911	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2237019	chr4:55574930-55574931	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs2969161	chr4:55574943-55574944	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369117999	chr4:55574968-55574969	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373866025	chr4:55574989-55574990	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	22183965	CNVD
Melanoma	18980976	CNVD
Rhabdomyosarcoma	20807811	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55555600-55574400	Weak transcription	Fetal Stomach	stomach
3	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
4	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:55565000-55574000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:55565000-55576000	Weak transcription	Ovary	ovary
9	chr4:55565600-55575000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:55567600-55575400	Weak transcription	Brain Germinal Matrix	brain
13	chr4:55567800-55574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:55570400-55578600	Weak transcription	Fetal Brain Male	brain
16	chr4:55571000-55580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:55571200-55575200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:55572200-55576000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:55572600-55574200	Weak transcription	Gastric	stomach
20	chr4:55573200-55574200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:55573200-55575400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:55573200-55576200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:55573200-55576600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:55573400-55573800	Enhancers	Thymus	Thymus
25	chr4:55573400-55574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:55573400-55574600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:55573400-55574600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:55573400-55575000	Strong transcription	NHDF-Ad	bronchial
29	chr4:55573400-55576400	Genic enhancers	Primary hematopoietic stem cells	blood
30	chr4:55573400-55576600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:55573600-55573800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:55573600-55575400	Weak transcription	HUVEC	blood vessel
33	chr4:55573600-55575400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:55573600-55576400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:55573600-55577400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:55573600-55577400	Enhancers	Fetal Thymus	thymus
37	chr4:55573600-55583200	Weak transcription	Brain Substantia Nigra	brain
38	chr4:55573800-55574600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:55573800-55575200	Weak transcription	Thymus	Thymus
40	chr4:55573800-55577600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:55574200-55576000	Enhancers	Gastric	stomach
42	chr4:55574200-55576200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:55574200-55576400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:55574200-55579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:55574400-55574600	Strong transcription	Fetal Stomach	stomach
46	chr4:55574400-55575200	Enhancers	Lung	lung
47	chr4:55574400-55578200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:55574600-55574800	Enhancers	Right Atrium	heart
49	chr4:55574600-55575200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr4:55574600-55575200	Enhancers	Primary T cells fromperipheralblood	blood

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